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An abstract of the article "Histopathologic differences between human T-lymphotropic virus type 1 (HTLV-1)-positive and HTLV-1-negative polymyositis," by Hazem M. Abdullah and colleagues is presented.

Background: Sporadic inclusion body myositis (sIBM) is the most prevalent acquired muscle disease in the elderly. sIBM is an intractable and progressive disease of unknown cause and without effective treatment. The etiology of sIBM is still unknown; however, genetic factors, aging, lifestyles, and environmental factors may be involved. The purpose of this study is to elucidate the cross-sectional profile of patients affected by sIBM in Japan., Methods: We surveyed patient data for 146 cases diagnosed at a number of centers across Japan. We also issued a questionnaire for 67 patients and direct caregivers to further elucidate the natural history of the disease., Results: The mean age at the onset was 63.4 ± 9.2 years. The mean length of time from the onset to diagnosis was 55.52 ± 49.72 months, suggesting that there is a difficulty in diagnosing this disease with long-term consequences because of late treatment. 73 % described the psychological/mental aspect of the disease. The most popular primary caregiver was the patient's spouse and 57 % patients mentioned that they were having problems managing the finances., Conclusions: Through these surveys, we described the cross-sectional profiles of sIBM in Japan. Many patients described psychological/mental and financial anxiety because of the aged profile of sIBM patients. The profiles of sIBM patients are similar to those in Western countries.

Emery-Dreifuss muscular dystrophy (EDMD) is caused by mutations in the EMD gene on the X chromosome, which codes for emerin, an inner nuclear membrane protein. Monoclonal antibodies against the N-terminus of emerin protein are used to screen for emerin deficiency in clinical practice. However, these tests may not accurately reflect the disease in some cases. We herein describe the identification of a splice site mutation in the EMD gene in a Japanese patient who suffered from complete atrioventricular conduction block, mild muscle weakness and joint contracture, and a persistently elevated serum creatine kinase level. We used multiple antibodies to confirm the presence of a novel truncating mutation in emerin without the transmembrane region and C-terminus in the skeletal muscle.

An 80-year-old Japanese man developed sensory disturbance of his extremities. One week after the onset of sensory disturbance, he also developed bilateral facial nerve palsy, weakness of the extremities, vesicorectal disturbance, general fatigue, and syndrome of inappropriate antidiuretic hormone secretion (SIADH). His symptoms worsened gradually. Despite the absence of apparent tick bite and characteristic skin lesions, we suspected Lyme neuroborreliosis (LNB) because of pleocytosis and elevated protein levels in the cerebrospinal fluid (CSF), in addition to the aforementioned symptoms. After combined administration of antibiotics and steroids, his symptoms improved rapidly. CSF showed highly elevated levels of the chemokine CXCL-13 and his serum was positive for IgM against Borrelia afzelii. Therefore, we diagnosed him as having LNB. He developed an exacerbation of SIADH and generalized fatigue during the course of LNB. His condition deteriorated despite further administration of antibiotics and steroids. Bone marrow aspiration revealed the presence of medium- to large-sized atypical lymphoma cells and lymphoma cells positive for CD8 but negative for CD45. Therefore, we diagnosed T-cell lymphoma. In recent years, an association between Borrelial infection and lymphoma development has been suspected. Borrelia afzelii infection may have been involved in the development of T-cell lymphoma in this case.